Canonical Allele Identifier: CA366188344

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735387-C-G
• MyVariant Identifiers: chr6:g.146056523C>G (hg19) ; chr6:g.145735387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735387C>G , CM000668.2:g.145735387C>G	GRCh38
NC_000006.11:g.146056523C>G , CM000668.1:g.146056523C>G	GRCh37
NC_000006.10:g.146098216C>G	NCBI36
NG_012832.1:g.5469G>C
NG_012832.2:g.5469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.112G>C (EPM2A) MANE Select	ENSP00000356489.3:p.Val38Leu
ENST00000435470.2:c.112G>C (EPM2A)	ENSP00000405913.2:p.Val38Leu
ENST00000611340.5:c.-114+609G>C (EPM2A)	ENSP00000480268.1:n.-114+609G>C
ENST00000638262.1:c.112G>C (EPM2A)	ENSP00000492876.1:p.Val38Leu
ENST00000639049.1:c.84G>C (EPM2A)
ENST00000639423.1:c.-114+521G>C (EPM2A)	ENSP00000492701.1:n.-114+521G>C
ENST00000639649.1:n.40G>C (EPM2A)
ENST00000640297.1:n.128G>C (EPM2A)
ENST00000640898.1:n.82+521G>C (EPM2A)
ENST00000640980.1:c.-114+521G>C (EPM2A)	ENSP00000491191.1:n.-114+521G>C
ENST00000367519.7:c.112G>C (EPM2A)	ENSP00000356489.3:p.Val38Leu
ENST00000618445.4:c.112G>C (EPM2A)	ENSP00000480339.1:p.Val38Leu
NM_001018041.1:c.112G>C (EPM2A)	NP_001018051.1:p.Val38Leu
NM_005670.3:c.112G>C (EPM2A)	NP_005661.1:p.Val38Leu
NR_038246.1:n.52+467C>G (EPM2A-DT)
XM_006715564.2:c.112G>C (EPM2A)	XP_006715627.1:p.Val38Leu
XM_011536113.1:c.112G>C (EPM2A)	XP_011534415.1:p.Val38Leu
XM_011536114.1:c.112G>C (EPM2A)	XP_011534416.1:p.Val38Leu
XM_011536115.1:c.112G>C (EPM2A)	XP_011534417.1:p.Val38Leu
NM_001360057.1:c.112G>C (EPM2A)	NP_001346986.1:p.Val38Leu
NM_001360064.1:c.-114+521G>C (EPM2A)	NP_001346993.1:n.-114+521G>C
NM_001360071.1:c.-558G>C (EPM2A)	NP_001347000.1:n.-558G>C
NR_153397.1:n.134G>C (EPM2A)
NR_153398.1:n.114+521G>C (EPM2A)
XM_011536113.2:c.112G>C (EPM2A)	XP_011534415.1:p.Val38Leu
XM_024446550.1:c.112G>C (EPM2A)	XP_024302318.1:p.Val38Leu
NM_005670.4:c.112G>C (EPM2A) MANE Select	NP_005661.1:p.Val38Leu
NM_001018041.2:c.112G>C (EPM2A)	NP_001018051.1:p.Val38Leu
NM_001360057.2:c.112G>C (EPM2A)	NP_001346986.1:p.Val38Leu
NM_001360064.2:c.-114+521G>C (EPM2A)	NP_001346993.1:n.-114+521G>C
NM_001360071.2:c.-558G>C (EPM2A)	NP_001347000.1:n.-558G>C
NM_001368129.2:c.-512G>C (EPM2A)	NP_001355058.1:n.-512G>C
NM_001368130.1:c.112G>C (EPM2A)	NP_001355059.1:p.Val38Leu
NM_001368131.1:c.-256G>C (EPM2A)	NP_001355060.1:n.-256G>C
NR_153398.2:n.116+521G>C (EPM2A)